title: Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids.
abstract: We report a case with genetically confirmed hereditary diffuse leukoencephalopathy with spheroids with distinctive MRI features. A 52-year-old woman with a family history of juvenile dementia presented with an 18-month history of progressive cognitive decline. Longitudinal magnetic resonance imaging studies of the brain revealed increasing and persistent white matter hyperintensities on diffusion-weighted images. Linear high intensity signal along axonal fibers arisen from the cerebral cortex was also shown. Finding of subcortical calcifications was noted on brain CT scan. Sequence analysis of CSF1R showed a novel missense mutation c.2467C>T (p.Ala823Val). Persistent and increasing diffusion on magnetic resonance image, presumably reflecting intramyelinic oedema in regions of neurodegeneration, is a distinctive feature observed in this case. The presence of this unique finding can be a diagnostic clue in the early stage of the disease.
authors.affiliation: Department of Clinical Neuroscience, Institute of Health Biosciences, Graduate School of Medicine, The University of Tokushima, Tokushima, Japan. Electronic address: tera@clin.med.tokushima-u.ac.jp.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Terasawa
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Osaki
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Tatsurou
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Antonio
authors.initials: A
authors.lastname: Orlacchio
authors.forename: Takashi
authors.initials: T
authors.lastname: Abe
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
mesh_terms: D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics; D018874:Spheroids, Cellular / Q000473:pathology*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor
keywords: Colony stimulating factor 1 receptor (CSF1R); Diagnosis; Diffusion-weighted imaging (DWI); Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS); Magnetic resonance imaging (MRI); dJuvenile dementia